Canonical Allele Identifier: CA386882727

Gene: MED13L

Linked Data

• ClinVar Variation Id: 916096
• ClinVar RCV Id: RCV001171598
• dbSNP Id: rs1877459454
• MyVariant Identifiers: chr12:g.116421063G>C (hg19) ; chr12:g.115983258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983258G>C , CM000674.2:g.115983258G>C	GRCh38
NC_000012.11:g.116421063G>C , CM000674.1:g.116421063G>C	GRCh37
NC_000012.10:g.114905446G>C	NCBI36
NG_023366.1:g.298929C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4814C>G MANE Select	ENSP00000281928.3:p.Ser1605Ter
ENST00000549786.2:c.4242C>G
ENST00000648379.1:n.3182C>G
ENST00000648737.1:n.4578C>G
ENST00000648825.1:n.1554C>G
ENST00000648916.1:n.2825C>G
ENST00000649146.1:n.1544C>G
ENST00000649607.1:c.2998C>G
ENST00000649775.1:c.1311C>G
ENST00000650226.1:c.4814C>G	ENSP00000496981.1:p.Ser1605Ter
ENST00000281928.7:c.4814C>G	ENSP00000281928.3:p.Ser1605Ter
ENST00000549786.1:c.178C>G
NM_015335.4:c.4814C>G	NP_056150.1:p.Ser1605Ter
XM_011538080.1:c.4814C>G	XP_011536382.1:p.Ser1605Ter
XM_011538081.1:c.4811C>G	XP_011536383.1:p.Ser1604Ter
XM_011538082.1:c.4784C>G	XP_011536384.1:p.Ser1595Ter
XM_011538080.2:c.4814C>G	XP_011536382.1:p.Ser1605Ter
XM_011538081.2:c.4811C>G	XP_011536383.1:p.Ser1604Ter
XM_011538082.2:c.4784C>G	XP_011536384.1:p.Ser1595Ter
XM_017019090.1:c.4811C>G	XP_016874579.1:p.Ser1604Ter
NM_015335.5:c.4814C>G MANE Select	NP_056150.1:p.Ser1605Ter